Rowland Payne Syndrome Mimicking Motor Neuron Disease: A Diagnostic Wake-Up Call
Rowland Payne Syndrome | 1 January 2025
Rowland Payne Syndrome (RPS) is an elusive yet clinically significant condition that can easily be mistaken for motor neuron disease (MND), especially amyotrophic lateral sclerosis (ALS). Characterized by a triad of Horner syndrome, vocal cord paralysis, and hemidiaphragm dysfunction, RPS often presents with symptoms that overlap with degenerative neuromuscular disorders—leading to delayed or incorrect diagnosis.
A recent open-access case report published in the Polish Journal of Neurology and Neurosurgery details the case of a woman misdiagnosed with ALS, later found to have Rowland Payne Syndrome due to breast cancer metastasis. This case not only highlights the diagnostic complexity of RPS but also emphasises the need for a vigilant, multidisciplinary approach to atypical neurodegenerative presentations.
Understanding the Diagnostic Challenge
In the case presented, a 64-year-old woman with a remote history of breast cancer was referred for evaluation of:
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Progressive flaccid paralysis of the left upper limb
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Dysphagia and dysarthria
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Ipsilateral Horner’s syndrome
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Vocal cord paralysis confirmed by laryngoscopy
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Hypoesthesia in the affected limb
Initial assessments—including MRI of the brain and spinal cord, EMG, and nerve conduction studies—suggested a motor neuron process, and a diagnosis of ALS was made two years into her symptom progression.
However, the evolution of sensory symptoms and the presence of Horner’s syndrome—neither typical of ALS—led the team to reinvestigate the case.
Revisiting the Diagnosis: Clues That Point Away from ALS
While ALS is characterized by progressive degeneration of motor neurons, it does not involve sensory fibers or the sympathetic nervous system. The presence of:
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Unilateral sensory loss
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Persistent ptosis and miosis (Horner syndrome)
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Unilateral diaphragm elevation
…should prompt clinicians to question an ALS diagnosis.
Moreover, electrophysiological studies showed that denervation was confined to the left upper limb—uncharacteristic of ALS, which typically shows more widespread involvement over time.
Unmasking Rowland Payne Syndrome
The Triad
Rowland Payne Syndrome presents as a triad of:
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Horner Syndrome – Damage to the cervical sympathetic trunk.
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Vocal Cord Paralysis – Dysfunction of the recurrent laryngeal nerve.
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Hemidiaphragm Paralysis – Injury to the phrenic nerve.
All three nerves run in close proximity at the lower cervical spine and thoracic inlet, making this anatomical region a vulnerable convergence point for lesions—especially malignancies, lymphadenopathy, or trauma.
Confirmatory Imaging
An MRI of the left brachial plexus with contrast revealed:
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A mass infiltrating the supraclavicular brachial plexus
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Pleural effusion and apical lung changes
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Thickened nerve bundles with abnormal signal intensity
Cytology Seals the Diagnosis
Analysis of pleural fluid uncovered atypical cells consistent with a breast cancer immunophenotype, confirming late-onset metastasis as the source of the syndrome—more than 24 years after the original mastectomy.
Diagnostic Framework for RPS vs. ALS
Feature | ALS | RPS |
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Onset | Typically bilateral or asymmetric | Usually unilateral |
Sensory involvement | Absent | Often present (e.g., hypoesthesia) |
Horner syndrome | Not seen | Present in most RPS cases |
Vocal cord paralysis | Rare | Common (due to recurrent laryngeal damage) |
Diaphragm paralysis | May occur late | Often an early or concurrent feature |
Imaging findings | Normal or atrophy | Mass, nerve infiltration, effusion possible |
EMG findings | Widespread denervation | Localized to one limb |
Cancer history | Not typically linked | Common trigger (e.g., breast, lung cancer) |
Diagnostic Tools That Made the Difference
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High-resolution MRI of the brachial plexus
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Chest X-ray revealing diaphragm elevation and pleural effusion
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Laryngoscopy confirming vocal cord paralysis
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Electromyography showing regional denervation
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Pleural fluid cytology confirming malignancy
These tools—used in concert—provided a clear picture that refuted ALS and supported a diagnosis of RPS.
Lessons Learned from the Case
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Do not assume ALS when signs are unilateral, especially if sensory changes are present.
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Horner syndrome should always prompt a search for mass lesions in the neck and thoracic inlet.
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Cancer metastasis can occur decades later, and clinicians must maintain a long-term view in cancer survivors.
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Multidisciplinary evaluation, including oncology, neurology, and radiology, is key in complex cases.
Epidemiological Insight
According to a compiled review of 10 reported cases of RPS (including this one):
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60% were associated with breast cancer
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Mean delay from cancer diagnosis to neurological symptoms was over 8 years
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Development of the full triad took up to 3 years in some cases
This latency emphasizes the insidious onset of RPS and underscores why early subtle symptoms should not be dismissed.
Rowland Payne Syndrome represents a diagnostic crossroads: failure to recognize it can lead to misdiagnosis of incurable neurodegenerative disease, while accurate identification opens the door to treatable or manageable underlying causes, particularly malignancy.
For clinicians, it serves as a powerful reminder that:
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Atypical presentations of common diseases may actually be typical presentations of rare diseases.
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RPS should be part of the differential in any patient with unilateral:
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Arm weakness and atrophy
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Vocal changes
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Horner syndrome
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Respiratory symptoms
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